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Results: 1 to 20 of 155

1.

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R.

J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5.

PMID:
25097207
[PubMed - in process]
2.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.

PMID:
24592505
[PubMed - in process]
3.

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu J.

Am J Med Genet A. 2014 Mar;164A(3):810-4. doi: 10.1002/ajmg.a.36359. Epub 2014 Jan 17.

PMID:
24443387
[PubMed - in process]
4.

Whole-genome single nucleotide polymorphism array analysis is complementary to classical cytogenetic analysis in the evaluation of lymphoid proliferations.

Gibson SE, Luo J, Sathanoori M, Liao J, Surti U, Swerdlow SH.

Am J Clin Pathol. 2014 Feb;141(2):247-55. doi: 10.1309/AJCPRHGHT28DUWLA.

PMID:
24436273
[PubMed - indexed for MEDLINE]
5.
6.

Intestinal γδ T-cell lymphomas are most frequently of type II enteropathy-associated T-cell type.

Wilson AL, Swerdlow SH, Przybylski GK, Surti U, Choi JK, Campo E, Trucco MM, Van Oss SB, Felgar RE.

Hum Pathol. 2013 Jun;44(6):1131-45. doi: 10.1016/j.humpath.2012.10.002. Epub 2013 Jan 17.

PMID:
23332928
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U.

Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7.

PMID:
23225375
[PubMed - indexed for MEDLINE]
8.

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery S, Canavan T, Speer P, Hill L, Clemens M, Rajkovic A.

Clin Genet. 2013 Jul;84(1):47-54. doi: 10.1111/cge.12027. Epub 2012 Nov 4.

PMID:
23020214
[PubMed - indexed for MEDLINE]
9.

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Liao J, Sathanoori M, Yatsenko SA, Hu J, Kochmar SJ, Hoffner L, Hogge WA, Surti U.

Prenat Diagn. 2012 Dec;32(12):1166-9. doi: 10.1002/pd.3977. Epub 2012 Sep 26.

PMID:
23015528
[PubMed - indexed for MEDLINE]
10.

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Bunce K, Chu T, Surti U, Hogge WA, Peters DG.

Prenat Diagn. 2012 Jun;32(6):542-9. doi: 10.1002/pd.3853. Epub 2012 Apr 11.

PMID:
22495992
[PubMed - indexed for MEDLINE]
11.

The genetics of gestational trophoblastic disease: a rare complication of pregnancy.

Hoffner L, Surti U.

Cancer Genet. 2012 Mar;205(3):63-77. doi: 10.1016/j.cancergen.2012.01.004. Review.

PMID:
22469506
[PubMed - indexed for MEDLINE]
12.

Altered neutrophil maturation patterns that limit identification of myelodysplastic syndromes.

Monaghan SA, Surti U, Doty K, Craig FE.

Cytometry B Clin Cytom. 2012 Jul;82(4):217-28. doi: 10.1002/cyto.b.21016. Epub 2012 Mar 19.

PMID:
22431481
[PubMed - indexed for MEDLINE]
Free Article
13.

Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.

McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A.

PLoS One. 2012;7(3):e33251. doi: 10.1371/journal.pone.0033251. Epub 2012 Mar 12.

PMID:
22428002
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.

Thorson HL, Surti U, Sathanoori M, Kochmar SJ, Torchia B, Rajkovic A.

Fetal Diagn Ther. 2012;31(3):196-200. doi: 10.1159/000335650. Epub 2012 Mar 13.

PMID:
22415219
[PubMed - indexed for MEDLINE]
15.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

PMID:
22290657
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A recurrent translocation is mediated by homologous recombination between HERV-H elements.

Hermetz KE, Surti U, Cody JD, Rudd MK.

Mol Cytogenet. 2012 Jan 19;5(1):6. doi: 10.1186/1755-8166-5-6.

PMID:
22260357
[PubMed]
Free PMC Article
17.

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A.

Fetal Diagn Ther. 2012;31(2):129-33. doi: 10.1159/000332968. Epub 2011 Dec 14.

PMID:
22178801
[PubMed - indexed for MEDLINE]
18.

Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.

Peters D, Chu T, Yatsenko SA, Hendrix N, Hogge WA, Surti U, Bunce K, Dunkel M, Shaw P, Rajkovic A.

N Engl J Med. 2011 Nov 10;365(19):1847-8. doi: 10.1056/NEJMc1106975. No abstract available.

PMID:
22070496
[PubMed - indexed for MEDLINE]
Free Article
19.

ZAP-70 and Bcl-2 expression in B lymphoblastic leukemia cells and hematogones.

Craig FE, Monaghan SA, Surti U, Swerdlow SH.

Cytometry B Clin Cytom. 2012 Mar;82(2):85-92. doi: 10.1002/cyto.b.20623. Epub 2011 Oct 26.

PMID:
22031455
[PubMed - indexed for MEDLINE]
Free Article
20.

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J.

Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11.

PMID:
21990074
[PubMed - indexed for MEDLINE]

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